Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nuclear receptor subfamily 1 group I member 2

Gene

NR1I2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes.6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei247Agonist1
Binding sitei285Agonist1
Binding sitei288Agonist1
Binding sitei299Agonist1
Binding sitei407Agonist1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi38 – 107Nuclear receptorPROSITE-ProRule annotationAdd BLAST70
Zinc fingeri41 – 61NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri77 – 102NR C4-typePROSITE-ProRule annotationAdd BLAST26

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkiO75469
SIGNORiO75469

Chemistry databases

SwissLipidsiSLP:000001583

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear receptor subfamily 1 group I member 2
Alternative name(s):
Orphan nuclear receptor PAR1
Orphan nuclear receptor PXR
Pregnane X receptor
Steroid and xenobiotic receptor
Short name:
SXR
Gene namesi
Name:NR1I2
Synonyms:PXR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144852.16
HGNCiHGNC:7968 NR1I2
MIMi603065 gene
neXtProtiNX_O75469

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi66 – 67RR → AA: Abolishes nuclear localization; when associated with 91-A-A-92. 1 Publication2
Mutagenesisi91 – 92RR → AA: Abolishes nuclear localization; when associated with 66-A-A-67. 1 Publication2

Organism-specific databases

DisGeNETi8856
OpenTargetsiENSG00000144852
PharmGKBiPA378

Chemistry databases

ChEMBLiCHEMBL3401
DrugBankiDB01248 Docetaxel
DB00530 Erlotinib
DB00783 Estradiol
DB00977 Ethinyl Estradiol
DB01892 Hyperforin
DB01229 Paclitaxel
DB01708 Prasterone
DB01045 Rifampicin
DB01220 Rifaximin
DB08864 Rilpivirine
DB04466 SR12813
DB00163 Vitamin E
GuidetoPHARMACOLOGYi606

Polymorphism and mutation databases

BioMutaiNR1I2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000535471 – 434Nuclear receptor subfamily 1 group I member 2Add BLAST434

Proteomic databases

PaxDbiO75469
PeptideAtlasiO75469
PRIDEiO75469
ProteomicsDBi50027
50028 [O75469-2]
50029 [O75469-3]
50030 [O75469-4]
50031 [O75469-5]
50032 [O75469-6]
50033 [O75469-7]

PTM databases

iPTMnetiO75469
PhosphoSitePlusiO75469

Expressioni

Tissue specificityi

Expressed in liver, colon and small intestine.

Gene expression databases

BgeeiENSG00000144852 Expressed in 66 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiO75469 baseline and differential
GenevisibleiO75469 HS

Organism-specific databases

HPAiHPA029309
HPA055121
HPA073926

Interactioni

Subunit structurei

Heterodimer with RXR. Interacts with NCOA1.5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114380, 39 interactors
ComplexPortaliCPX-496 RXRalpha-PXR retinoic acid receptor complex
IntActiO75469, 10 interactors
STRINGi9606.ENSP00000336528

Chemistry databases

BindingDBiO75469

Structurei

Secondary structure

1434
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00323
ProteinModelPortaliO75469
SMRiO75469
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75469

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini146 – 433NR LBDPROSITE-ProRule annotationAdd BLAST288

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni108 – 145HingeAdd BLAST38

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi66 – 92Bipartite nuclear localization signalAdd BLAST27

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri41 – 61NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri77 – 102NR C4-typePROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136372
HOVERGENiHBG108655
InParanoidiO75469
KOiK08540
OMAiANGYHFN
OrthoDBiEOG091G05X3
PhylomeDBiO75469
TreeFamiTF316304

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1A (identifier: O75469-1) [UniParc]FASTAAdd to basket
Also known as: 1, PRR1-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEVRPKESWN HADFVHCEDT ESVPGKPSVN ADEEVGGPQI CRVCGDKATG
60 70 80 90 100
YHFNVMTCEG CKGFFRRAMK RNARLRCPFR KGACEITRKT RRQCQACRLR
110 120 130 140 150
KCLESGMKKE MIMSDEAVEE RRALIKRKKS ERTGTQPLGV QGLTEEQRMM
160 170 180 190 200
IRELMDAQMK TFDTTFSHFK NFRLPGVLSS GCELPESLQA PSREEAAKWS
210 220 230 240 250
QVRKDLCSLK VSLQLRGEDG SVWNYKPPAD SGGKEIFSLL PHMADMSTYM
260 270 280 290 300
FKGIISFAKV ISYFRDLPIE DQISLLKGAA FELCQLRFNT VFNAETGTWE
310 320 330 340 350
CGRLSYCLED TAGGFQQLLL EPMLKFHYML KKLQLHEEEY VLMQAISLFS
360 370 380 390 400
PDRPGVLQHR VVDQLQEQFA ITLKSYIECN RPQPAHRFLF LKIMAMLTEL
410 420 430
RSINAQHTQR LLRIQDIHPF ATPLMQELFG ITGS
Length:434
Mass (Da):49,762
Last modified:November 1, 1998 - v1
Checksum:i1DF6A2AE3109C4DA
GO
Isoform 1B (identifier: O75469-2) [UniParc]FASTAAdd to basket
Also known as: PRR1-B

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: Missing.

Show »
Length:379
Mass (Da):43,706
Checksum:i7B79CBF8A100C0F0
GO
Isoform 1C (identifier: O75469-3) [UniParc]FASTAAdd to basket
Also known as: PRR1-C

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDPRGEVGAKNLPPNSPRGPEANL

Show »
Length:457
Mass (Da):52,129
Checksum:i37EFF759461EFE94
GO
Isoform 2A (identifier: O75469-4) [UniParc]FASTAAdd to basket
Also known as: 2, PRR2-A

The sequence of this isoform differs from the canonical sequence as follows:
     174-210: Missing.

Show »
Length:397
Mass (Da):45,766
Checksum:i5F0007EFD27260F9
GO
Isoform 2B (identifier: O75469-5) [UniParc]FASTAAdd to basket
Also known as: PRR2-B

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: Missing.
     174-210: Missing.

Show »
Length:342
Mass (Da):39,710
Checksum:i7D4EA16E5A132B0B
GO
Isoform 2C (identifier: O75469-6) [UniParc]FASTAAdd to basket
Also known as: PRR2-C

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDPRGEVGAKNLPPNSPRGPEANL
     174-210: Missing.

Show »
Length:420
Mass (Da):48,134
Checksum:iCE6179469491C1EF
GO
Isoform 3 (identifier: O75469-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTVTRTHHFKEGSLRAPAIPLHSAAAELASNHPRGPEANL

Show »
Length:473
Mass (Da):53,899
Checksum:i3049D23C9B903016
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KPQ3J3KPQ3_HUMAN
Nuclear receptor subfamily 1 group ...
NR1I2 hCG_21777
434Annotation score:
H0Y8E2H0Y8E2_HUMAN
Nuclear receptor subfamily 1 group ...
NR1I2 hCG_21777
397Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109K → N in CAB55489 (Ref. 5) Curated1
Sequence conflicti109K → N in CAB55490 (Ref. 5) Curated1
Sequence conflicti109K → N in CAB55491 (Ref. 5) Curated1
Sequence conflicti109K → N in CAB55492 (Ref. 5) Curated1
Sequence conflicti109K → N in CAB55493 (Ref. 5) Curated1
Sequence conflicti109K → N in CAB55494 (Ref. 5) Curated1
Sequence conflicti174Missing in AAH17304 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05058112A → T1 PublicationCorresponds to variant dbSNP:rs1063955Ensembl.1
Natural variantiVAR_03323718E → K1 PublicationCorresponds to variant dbSNP:rs59371185Ensembl.1
Natural variantiVAR_01222827P → S in allele PXR*2. 2 PublicationsCorresponds to variant dbSNP:rs12721613Ensembl.1
Natural variantiVAR_01222936G → R in allele PXR*3. 1 PublicationCorresponds to variant dbSNP:rs12721607Ensembl.1
Natural variantiVAR_01834098R → C1 PublicationCorresponds to variant dbSNP:rs72551371Ensembl.1
Natural variantiVAR_012230122R → Q in allele PXR*4; rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs12721608Ensembl.1
Natural variantiVAR_018341148R → Q1 PublicationCorresponds to variant dbSNP:rs72551373Ensembl.1
Natural variantiVAR_033238370A → T1 PublicationCorresponds to variant dbSNP:rs35761343Ensembl.1
Natural variantiVAR_018342381R → W1 PublicationCorresponds to variant dbSNP:rs72551375Ensembl.1
Natural variantiVAR_018343403I → V1 PublicationCorresponds to variant dbSNP:rs72551376Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0036681 – 55Missing in isoform 1B and isoform 2B. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_0036671M → MDPRGEVGAKNLPPNSPRGP EANL in isoform 1C and isoform 2C. 1 Publication1
Alternative sequenceiVSP_0266691M → MTVTRTHHFKEGSLRAPAIP LHSAAAELASNHPRGPEANL in isoform 3. 1 Publication1
Alternative sequenceiVSP_003669174 – 210Missing in isoform 2A, isoform 2B and isoform 2C. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY091855 mRNA Translation: AAM26736.1
AF061056 mRNA Translation: AAD05436.1
AF084644 mRNA Translation: AAC64557.1
AF084645 mRNA Translation: AAC64558.1
AF364606 Genomic DNA Translation: AAK38720.1
AF364606 Genomic DNA Translation: AAK38721.1
AF364606 Genomic DNA Translation: AAK38722.1
AJ009936 mRNA Translation: CAB55489.1
AJ009936 mRNA Translation: CAB55490.1
AJ009936 mRNA Translation: CAB55491.1
AJ009937 mRNA Translation: CAB55492.1
AJ009937 mRNA Translation: CAB55493.1
AJ009937 mRNA Translation: CAB55494.1
DQ911122 Genomic DNA Translation: ABJ52965.1
DQ923326 Genomic DNA Translation: ABJ52966.1
EF614253 Genomic DNA Translation: ABR09276.1
BC017304 mRNA Translation: AAH17304.2
CCDSiCCDS2995.1 [O75469-7]
CCDS43136.1 [O75469-1]
CCDS54627.1 [O75469-4]
RefSeqiNP_003880.3, NM_003889.3 [O75469-1]
NP_071285.1, NM_022002.2 [O75469-7]
NP_148934.1, NM_033013.2 [O75469-4]
UniGeneiHs.7303

Genome annotation databases

EnsembliENST00000337940; ENSP00000336528; ENSG00000144852 [O75469-7]
ENST00000638727; ENSP00000492264; ENSG00000144852 [O75469-4]
ENST00000640105; ENSP00000492881; ENSG00000144852 [O75469-1]
GeneIDi8856
KEGGihsa:8856
UCSCiuc003edk.3 human [O75469-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY091855 mRNA Translation: AAM26736.1
AF061056 mRNA Translation: AAD05436.1
AF084644 mRNA Translation: AAC64557.1
AF084645 mRNA Translation: AAC64558.1
AF364606 Genomic DNA Translation: AAK38720.1
AF364606 Genomic DNA Translation: AAK38721.1
AF364606 Genomic DNA Translation: AAK38722.1
AJ009936 mRNA Translation: CAB55489.1
AJ009936 mRNA Translation: CAB55490.1
AJ009936 mRNA Translation: CAB55491.1
AJ009937 mRNA Translation: CAB55492.1
AJ009937 mRNA Translation: CAB55493.1
AJ009937 mRNA Translation: CAB55494.1
DQ911122 Genomic DNA Translation: ABJ52965.1
DQ923326 Genomic DNA Translation: ABJ52966.1
EF614253 Genomic DNA Translation: ABR09276.1
BC017304 mRNA Translation: AAH17304.2
CCDSiCCDS2995.1 [O75469-7]
CCDS43136.1 [O75469-1]
CCDS54627.1 [O75469-4]
RefSeqiNP_003880.3, NM_003889.3 [O75469-1]
NP_071285.1, NM_022002.2 [O75469-7]
NP_148934.1, NM_033013.2 [O75469-4]
UniGeneiHs.7303

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ILGX-ray2.52A130-434[»]
1ILHX-ray2.76A130-434[»]
1M13X-ray2.15A130-434[»]
1NRLX-ray2.00A/B130-434[»]
1SKXX-ray2.80A130-431[»]
2O9IX-ray2.80A/B142-434[»]
2QNVX-ray2.80A130-434[»]
3CTBX-ray2.00A/B130-434[»]
3HVLX-ray2.10A/B130-434[»]
3R8DX-ray2.80A130-434[»]
4J5WX-ray2.80A/B130-434[»]
4J5XX-ray2.80A/B130-434[»]
4NY9X-ray2.80A142-431[»]
4S0SX-ray2.80A/B130-434[»]
4S0TX-ray3.14A/B130-434[»]
4X1FX-ray2.00A130-434[»]
4X1GX-ray2.25A130-434[»]
4XAOX-ray2.58A130-434[»]
4XHDX-ray2.40A130-434[»]
5A86X-ray2.25A/B130-432[»]
5X0RX-ray2.67A/B130-434[»]
6BNSX-ray2.56A/B130-434[»]
6DUPX-ray2.30A/B130-426[»]
DisProtiDP00323
ProteinModelPortaliO75469
SMRiO75469
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114380, 39 interactors
ComplexPortaliCPX-496 RXRalpha-PXR retinoic acid receptor complex
IntActiO75469, 10 interactors
STRINGi9606.ENSP00000336528

Chemistry databases

BindingDBiO75469
ChEMBLiCHEMBL3401
DrugBankiDB01248 Docetaxel
DB00530 Erlotinib
DB00783 Estradiol
DB00977 Ethinyl Estradiol
DB01892 Hyperforin
DB01229 Paclitaxel
DB01708 Prasterone
DB01045 Rifampicin
DB01220 Rifaximin
DB08864 Rilpivirine
DB04466 SR12813
DB00163 Vitamin E
GuidetoPHARMACOLOGYi606
SwissLipidsiSLP:000001583

PTM databases

iPTMnetiO75469
PhosphoSitePlusiO75469

Polymorphism and mutation databases

BioMutaiNR1I2

Proteomic databases

PaxDbiO75469
PeptideAtlasiO75469
PRIDEiO75469
ProteomicsDBi50027
50028 [O75469-2]
50029 [O75469-3]
50030 [O75469-4]
50031 [O75469-5]
50032 [O75469-6]
50033 [O75469-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337940; ENSP00000336528; ENSG00000144852 [O75469-7]
ENST00000638727; ENSP00000492264; ENSG00000144852 [O75469-4]
ENST00000640105; ENSP00000492881; ENSG00000144852 [O75469-1]
GeneIDi8856
KEGGihsa:8856
UCSCiuc003edk.3 human [O75469-1]

Organism-specific databases

CTDi8856
DisGeNETi8856
EuPathDBiHostDB:ENSG00000144852.16
GeneCardsiNR1I2
HGNCiHGNC:7968 NR1I2
HPAiHPA029309
HPA055121
HPA073926
MIMi603065 gene
neXtProtiNX_O75469
OpenTargetsiENSG00000144852
PharmGKBiPA378
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136372
HOVERGENiHBG108655
InParanoidiO75469
KOiK08540
OMAiANGYHFN
OrthoDBiEOG091G05X3
PhylomeDBiO75469
TreeFamiTF316304

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkiO75469
SIGNORiO75469

Miscellaneous databases

ChiTaRSiNR1I2 human
EvolutionaryTraceiO75469
GeneWikiiPregnane_X_receptor
GenomeRNAii8856
PROiPR:O75469
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144852 Expressed in 66 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiO75469 baseline and differential
GenevisibleiO75469 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNR1I2_HUMAN
AccessioniPrimary (citable) accession number: O75469
Secondary accession number(s): Q006P5
, Q008C8, Q96AC7, Q9UJ22, Q9UJ23, Q9UJ24, Q9UJ25, Q9UJ26, Q9UJ27, Q9UNW4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again